| 邹玥,刘颖,郭雪华.新一代测序技术对 22q11.2微缺失所致的胎儿心脏发育畸形的产前筛查价值[J].安徽医药,2022,26(11):2253-2257. |
| 新一代测序技术对 22q11.2微缺失所致的胎儿心脏发育畸形的产前筛查价值 |
| Prenatal screening value of new generation sequencing technology for fetal cardiac malformation caused by 22q11.2 microdeletion |
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| DOI：10.3969/j.issn.1009-6469.2022.11.030 |
| 中文关键词: 心脏缺损，先天性 22q11.2微缺失 心脏发育畸形 产前筛查 |
| 英文关键词: Heart defects,congenital 22q11.2 microdeletion Fetal cardiac malformation Prenatal screening |
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| 中文摘要: |
| 目的分析新一代测序技术对 22q11.2微缺失所致的胎儿心脏发育畸形的产前筛查价值。方法选取 2018年 7月至 2020年 3月吉林省妇幼保健院收治的 78例可疑胎儿心脏发育畸形者的孕妇作为受试对象，均接受跟踪随访明确胎儿心脏发育情况，采用新一代测序技术、多重连接探针扩增(MLPA)技术检测 22q11.2微缺失情况，并利用 MLPA技术对父母溯源。统计随访和检测结果，采用微阵列比较基因组杂交( arrayCGH)技术进行全基因组扫描分析，验证上述检测结果。将 arrayCGH验证结果作为“金标准”分析新一代测序技术对 22q11.2微缺失所致的胎儿心脏发育畸形的产前筛查价值。结果 78例受试对象中有 35例胎儿心脏发，育畸形者，经新一代测序技术、 MLPA、arrayCGH检测分别有 12例、 14例、 14例 22q11.2微缺失； 43例胎儿心脏发育正常者经新一代测序技术、 MLPA、arrayCGH检测分别有 1例、 1例、 1例 22q11.2微缺失；有 2例经 MLPA检测发现 22q11.2微缺失属于父源，余 13例均为新发 22q11.2微缺失；以 arrayCGH验证结果为“金标准”，新一代测序技术诊断 22q11.2微缺失的灵敏度、特异度、准确度分别为 86.70%、100.00%、97.40%，Kappa一致性检验值为 0.913，MLPA诊断 22q11.2微缺失的灵敏度、特异度、准确度分别为 100.00%、100.00%、10.00%，Kappa一致性检验值为 1.000，且新一代测序技术、 MLPA检测结果与“金标准”有显著关联性( χ2=59.43、71.70，P<0.05)，差异无统计学意义( χ2=0.50、0.00，P>0.05)。结论 22q11.2微缺失是胎儿 |
| 英文摘要: |
| Objective To analyze the prenatal screening value of new generation sequencing technology for fetal cardiac malforma.tion caused by 22q11.2 microdeletion.Methods Seventy-eight pregnant women with suspected fetal cardiac malformation in JilinWomen And Children Health Hospital from July 2018 to March 2020 were selected as the subjects. All pregnant women were followedup to confirm the fetal heart development.22q11.2 microdeletions were detected by next-generation sequencing technology and multi.plex ligation probe amplification (MLPA) technology,and MLPA technology was used to trace the origin of parents. The results of follow-up and detection were statistically analyzed. Array comparative genomic hybridization (array CGH) technology was used for whole ge.nome scanning analysis to verify the above detection results. The follow-up results and array CGH verification results were regarded asthe "gold standard",and the prenatal screening value of new generation sequencing technology for fetal cardiac malformation caused by22q11.2 microdeletion was analyzed.Results Among the 78 subjects,35 cases of fetal heart malformation were found,and there were12 cases,14 cases, and 14 cases of 22q11.2 microdeletions detected by new generation sequencing technology,MLPA, and array CGH.In 43 cases of normal fetal heart development, there were 1 case, 1 case and 1 case of 22q11.2 microdeletions detected by new genera.tion sequencing technology,MLPA and array CGH. 2 cases of 22q11.2 microdeletions were found to be paternal origin by MLPA detec.tion,and the remaining 13 cases were all new 22q11.2 microdeletions.The verification result of array CGH was regarded as the "goldstandard",the sensitivity,specificity and accuracy of the new generation sequencing technology in the diagnosis of 22q11.2 microdele.tion were 86.70%,100.00% and 97.40%,respectively, and the kappa consistency test value was 0.913.The sensitivity,specificity and ac.curacy of MLPA diagnosis of 22q11.2 microdeletion were 100.00%,100.00% and 10.00%, respectively,and the kappa consistency testvalue was 1.000.The results of new generation sequencing technology and MLPA were significantly correlated with "gold standard"(χ2= 59.43,71.70,P<0.05),but there was no significant difference(χ2=0.50,0.00,P>0.05).Conclusion 22q11.2 microdeletion is a commoncause of fetal cardiac malformation,and the new generation sequencing technology and MLPA have the same value in screening. |
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